Variant report

Variant	rs9752350
Chromosome Location	chr2:110294520-110294521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10496433	0.81[ASN][1000 genomes]
rs11690225	0.87[AMR][1000 genomes]
rs11692886	0.87[EUR][1000 genomes]
rs1808722	0.83[EUR][1000 genomes]
rs28369323	0.83[EUR][1000 genomes]
rs28853417	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58012425	0.87[EUR][1000 genomes]
rs61215808	0.83[EUR][1000 genomes]
rs6716287	0.83[EUR][1000 genomes]
rs6735752	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752531	0.94[EUR][1000 genomes]
rs717189	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938271	0.82[EUR][1000 genomes]
rs7568492	0.81[ASN][1000 genomes]
rs767628	0.83[EUR][1000 genomes]
rs9330316	0.87[EUR][1000 genomes]
rs9751601	0.89[EUR][1000 genomes]
rs9751717	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9752350	ANKRD57	Cis_1M	lymphoblastoid	RTeQTL
rs9752350	SH3MD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110285000-110299200	Weak transcription	Aorta	Aorta
2	chr2:110288000-110299000	Weak transcription	Esophagus	oesophagus
3	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:110291400-110295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:110291400-110295800	Weak transcription	Fetal Kidney	kidney
6	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:110292400-110296400	Enhancers	HSMMtube	muscle
8	chr2:110293200-110302600	Weak transcription	Fetal Lung	lung
9	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:110293400-110294600	Enhancers	HepG2	liver
11	chr2:110293400-110295400	Weak transcription	Stomach Mucosa	stomach
12	chr2:110293400-110295600	Weak transcription	Ovary	ovary
13	chr2:110293400-110296000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:110293400-110297400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:110293400-110299000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:110293400-110299200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:110293400-110299200	Weak transcription	Pancreas	Pancrea
18	chr2:110293400-110299200	Weak transcription	HSMM	muscle
19	chr2:110293400-110301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:110293400-110303200	Weak transcription	NHLF	lung
21	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
23	chr2:110293400-110309600	Weak transcription	Lung	lung
24	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
25	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
26	chr2:110293400-110352200	Weak transcription	Gastric	stomach
27	chr2:110293600-110295600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:110293600-110299000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:110293600-110302600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:110293600-110302600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:110293600-110309400	Weak transcription	Liver	Liver
32	chr2:110294000-110299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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